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7.2 The Nature of Genetic Information

• DNA carries all the genetic information needed to build a
new individual
• Genetic information consists of base sequences
• Genes are subunits of that sequence

• Gene
• Part of a DNA base sequence
• Specifies structure of an RNA or protein product
From Gene to RNA to Protein

• Gene expression involves transcription (DNA to RNA),
and translation (mRNA, or messenger RNA, to protein)

• Gene expression
• Process by which the information in a gene becomes converted to
an RNA or protein product


• A gene’s nucleotide base sequence encodes instructions
for building an RNA or protein product

• A cell transcribes the base sequence of a gene into mRNA

• mRNA carries a protein-building message


• Transcription
• Process by which an RNA is assembled from nucleotides using the
base sequence of a gene as a template

• Messenger RNA (mRNA)
• Type of RNA that has a protein-building message

• Translation requires the participation of tRNA (transfer
RNA) and rRNA (ribosomal RNA)

• Translation
• Process by which a polypeptide chain is assembled from amino
acids in the order specified by an mRNA

RNA and DNA Nucleotides
Fig. 7-2a, p. 117
Fig. 7-2b, p. 117
7.3 Transcription: DNA to RNA
• Base-pairing rules in DNA replication also apply to RNA
synthesis in transcription, but RNA uses uracil in place of

The Process of Transcription

• In transcription, RNA polymerase binds to a promoter in
the DNA near a gene

• RNA polymerase
• Enzyme that carries out transcription

• Promoter
• In DNA, a sequence to which RNA polymerase binds
The Process of Transcription

• Polymerase moves along the DNA, unwinding the DNA so
it can read the base sequence

• RNA polymerase assembles a strand of RNA by linking
RNA nucleotides in the order determined by the base
sequence of the gene

• The new mRNA is a copy of the gene from which it was

mRNA and the Genetic Code

• The information in mRNA consists of sets of three
nucleotides (codons) that form “words” spelled with the
four bases A, C, G, and U

• Codon
• In mRNA, a nucleotide base triplet that codes for an amino acid or
stop signal during translation
mRNA and the Genetic Code

• Sixty-four codons, most of which specify amino acids,
constitute the genetic code
• 20 amino acids in proteins; most have more than one codon

• Genetic code
• Sixty-four mRNA codons; each specifies an amino acid or a signal
to start or stop translation

The Genetic Code
Translating mRNA to Amino Acids
7.5 Translating the Code: RNA to Protein

• Translation, the second part of protein synthesis, occurs
in the cytoplasm of all cells

• Translation is an energy-requiring process that converts
the protein-building information carried by an mRNA into a

Three Stages of Translation
• Initiation
• mRNA joins with an initiator tRNA and two ribosomal subunits

• Elongation
• Ribosome joins amino acids delivered by tRNAs in the order
specified by mRNA codons

• Termination
• Polymerase encounters a stop codon; mRNA and polypeptide are
released; ribosome disassembles
7.6 Mutated Genes and Their Products

• Mutations are permanent changes in the nucleotide
sequence of DNA, which may alter a gene product

• A mutation that changes a gene’s product may have
harmful effects
• Example: Mutations that affect the proteins in hemoglobin reduce
blood’s ability to carry oxygen
Types of Mutations
• Deletion
• Mutation in which one or more base pairs are lost

• Insertion
• Mutation in which one or more base pairs become inserted into

• Base-pair substitution
• Type of mutation in which a single base-pair changes
What Causes Mutations?

• Most mutations result from unrepaired DNA polymerase
errors during DNA replication

• Some result from transposable element activity, or from
exposure to radiation or chemicals

• Transposable element
• Small segment of DNA that can spontaneously move to a new
location in a chromosome
Ionizing Radiation Damage
• Ionizing radiation (x-rays) breaks chromosomes and
produces free radicals

Nonionizing Radiation Damage
• Nonionizing radiation (UV light) results in thymine dimers,
which lead to skin cancer

Environmental Damage

• Some natural and synthetic chemicals cause mutations in

• Example: Cigarette smoke transfers small hydrocarbon
groups to bases in DNA, causing mispairing during
7.7 Examples of
Eukaryotic Gene Controls

• All cells in your body carry the same DNA

• Some genes are transcribed by all cells, but most cells
are specialized (differentiated) to use only certain genes

• Which genes are expressed at a given time depends on
the type of cell and conditions
Cell Differentiation

• Cells differentiate when they start expressing a unique
subset of their genes – controls over gene expression are
the basis of differentiation

• Differentiation
• The process by which cells become specialized
• Occurs as different cell lineages begin to express different subsets
of their genes
Controlling Gene Expression

• Controlling gene expression is critical for normal
development and function of a eukaryotic body

• All steps between transcription and delivery of gene
product are regulated

• Transcription factor
• Protein that influences transcription by binding to DNA
Homeotic Genes

• Homeotic gene
• Type of master gene that controls formation of specific body parts
during development

• Master gene
• Gene encoding a product that affects the expression of many other
• Controls an intricate task such as eye formation

• All homeotic genes encode transcription factors with a
homeodomain – a region of about 60 amino acids that
can bind to a promoter or some other DNA sequence

Sex Chromosome Genes

• In mammals, males have only one X chromosome –
females have two, but one is tightly condensed into a Barr
body and inactive

• Dosage compensation
• Theory that X chromosome inactivation equalizes gene expression
between males and females
X Chromosome Inactivation
• Female cells have Barr bodies, male cells do not

The Y Chromosome

• The SRY gene, found on the Y chromosome, is the
master gene for male sex determination
• Triggers formation of testes
• Testosterone produced by testes controls formation of male
secondary traits

• Absence of SRY gene in females triggers development of
ovaries, female characteristics
Development of
Human Reproductive Organs
Cancer: Gene Expression Out of

• Many gene expression controls regulate cell growth and
division – mutations that disrupt normal controls can
cause cancer

• Cancer
• Disease that occurs when a malignant neoplasm physically and
metabolically disrupts body tissues


• Tumor
• Abnormally growing and dividing mass of cells

• Metastasis
• A process of cancer in which tumor cells lose membrane
recognition proteins, break free, and establish themselves in other
parts of the body
Cancer and Mutations

• Cancer begins with a mutation in a gene whose product
controls cell growth and division

• A mutation that causes cancer may be inherited or be
caused by environmental agents

• Tumors are more likely to occur when mutations occur in
tumor suppressor genes, such as BRCA1 and BRCA2
Fig. 7-15b, p. 130